M70V (p.Met70Val) variant of AQP4 (Aquaporin-4)
M70V (p.Met70Val) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
M70V (p.Met70Val) variant details
- p.Met70Val
- gnomAD 18-26862421-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.28
- MetaLR 0.24
- MetaSVM -0.72
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available